ClinVar Miner

List of variants in gene COL1A1 reported by Integrated Genetics/Laboratory Corporation of America

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Total variants: 39
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HGVS dbSNP
NM_000088.3(COL1A1):c.1021G>T (p.Gly341Cys) rs193922137
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1200+1G>A rs72648320
NM_000088.3(COL1A1):c.1235C>G (p.Pro412Arg) rs193922138
NM_000088.3(COL1A1):c.1299+5G>A rs193922139
NM_000088.3(COL1A1):c.1544G>C (p.Gly515Ala) rs193922140
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1657del (p.Thr553fs) rs193922141
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2398-1G>C rs193922147
NM_000088.3(COL1A1):c.2418del (p.Gly809fs) rs193922148
NM_000088.3(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.3(COL1A1):c.2452-23delC rs146899953
NM_000088.3(COL1A1):c.2594G>A (p.Arg865His) rs193922150
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.2897A>G (p.Gln966Arg) rs193922152
NM_000088.3(COL1A1):c.2897_2898AG[2] (p.Gly968fs) rs1555572406
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.299_300delAG rs193922154
NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.3(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.3(COL1A1):c.370-2A>G rs193922155
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4006-9C>T rs193922156
NM_000088.3(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.612C>T (p.Pro204=) rs138078016
NM_000088.3(COL1A1):c.642+25T>C rs73987448
NM_000088.3(COL1A1):c.751-2A>G rs193922158
NM_000088.3(COL1A1):c.805G>A (p.Gly269Ser) rs72645328
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000088.3(COL1A1):c.999C>T (p.Pro333=) rs62637627

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